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Interpretation of submicroscopic deletions of the BCR or ABL gene should not depend on extra signal-FISH: problems in interpretation of submicroscopic deletion of the BCR or ABL gene with extra signal-FISH
DC Field | Value | Language |
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dc.contributor.author | Kim, Young Ree | - |
dc.contributor.author | Cho, Han Ik | - |
dc.contributor.author | Yoon, Sung Soo | - |
dc.contributor.author | Park, Seonyang | - |
dc.contributor.author | Kim, Byoung Kook | - |
dc.contributor.author | Lee, Young Kyung | - |
dc.contributor.author | Chun, Honggu | - |
dc.contributor.author | Kim, Hee Chan | - |
dc.contributor.author | Lee, Dong Soon | - |
dc.date.accessioned | 2009-12-30T02:04:10Z | - |
dc.date.available | 2009-12-30T02:04:10Z | - |
dc.date.issued | 2005-02-22 | - |
dc.identifier.citation | Genes Chromosomes Cancer. 2005 May;43(1):37-44. | en |
dc.identifier.issn | 1045-2257 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15723338 | - |
dc.identifier.uri | https://hdl.handle.net/10371/23425 | - |
dc.description.abstract | Several groups have demonstrated that a submicroscopic gene deletion in Ph+ chronic myelogenous leukemia (CML) is associated with a poor prognosis and reduced response to treatment. To assess the variation between detection methods in the interpretation of a submicroscopic gene deletion, we performed an extra signal (ES)-FISH BCR/ABL and double-FISH (D-FISH) BCR/ABL on frozen bone marrow cells from 79 patients with CML (63 in the chronic phase, 6 in the accelerated phase, and 10 in blast crisis) and 30 patients with a BCR/ABL-negative myeloproliferative disorder as determined by RT-PCR. The normal cutoff values were 0.22% for ES-FISH and 0.25% for D-FISH. The cutoff values for false-positive signals from a juxtaposition of the BCR and ABL gene were 11% in ES-FISH and 13% in D-FISH. Of the 14 patients who showed an ABL gene deletion by ES-FISH, 5 had an ABL deletion only, 5 had both a BCR and an ABL deletion, but 4 proved to have a classic BCR/ABL rearrangement without a submicroscopic deletion, as determined by D-FISH. Discrepant results between ES- and D-FISH were observed in 12 of the 79 patients (15.8%), and the main causes of a discrepancy were a false-positive ABL deletion (4 of 12, 33%), a variant Philadelphia chromosome (3 of 12, 25%), an inversion of derivative chromosome 9 at the very breakpoint of the ABL gene (9q32) (1 of 12, 8.3%), a cryptic variant Ph chromosome (1 of 12, 8.3%), and a marker chromosome (1 of 12, 8.3%). Although there was no significant difference in the sensitivity for the detection of the fusion signal between ES- and D-FISH, ES-FISH showed a high percentage of cells with false-positive fusion signals (1 orange, 1 green, 1 yellow), which makes it difficult to interpret the submicroscopic ABL deletion. In conclusion, an interpretation of the submicroscopic deletions of the BCR or ABL gene should not depend on ES-FISH. | en |
dc.language.iso | en | en |
dc.publisher | Wiley-Blackwell | en |
dc.subject | Bone Marrow/pathology | en |
dc.subject | Fusion Proteins, bcr-abl/*genetics | en |
dc.subject | Humans | en |
dc.subject | In Situ Hybridization, Fluorescence | en |
dc.subject | Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics | en |
dc.subject | Prognosis | en |
dc.subject | Protein-Tyrosine Kinases/*genetics | en |
dc.subject | Proto-Oncogene Proteins/*genetics | en |
dc.subject | Proto-Oncogene Proteins c-bcr | en |
dc.subject | Reproducibility of Results | en |
dc.subject | Reverse Transcriptase Polymerase Chain Reaction | en |
dc.subject | Sensitivity and Specificity | en |
dc.subject | Gene Deletion | - |
dc.subject | Genes, abl | - |
dc.title | Interpretation of submicroscopic deletions of the BCR or ABL gene should not depend on extra signal-FISH: problems in interpretation of submicroscopic deletion of the BCR or ABL gene with extra signal-FISH | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 김영리 | - |
dc.contributor.AlternativeAuthor | 조한익 | - |
dc.contributor.AlternativeAuthor | 윤성수 | - |
dc.contributor.AlternativeAuthor | 박선양 | - |
dc.contributor.AlternativeAuthor | 김병국 | - |
dc.contributor.AlternativeAuthor | 이영경 | - |
dc.contributor.AlternativeAuthor | 천홍구 | - |
dc.contributor.AlternativeAuthor | 김희찬 | - |
dc.contributor.AlternativeAuthor | 이동순 | - |
dc.identifier.doi | 10.1002/gcc.20161 | - |
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